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Genomic testing for deafness and its implications
Gene therapies for hearing loss are rapidly advancing and will be transitioning to clinical practice. Here, the authors explain why clinicians involved in managing these disorders need to be aware of these advances. Genomic testing in England was significantly reconfigured...Nasal sidewall reconstruction
Expert reconstruction of nasal sidewall defects requires careful selection of techniques across nasal layers, balancing aesthetics, structural support and patient needs. When reconstructing a nasal skin defect, a variety of factors should be taken into account in order to achieve...Branchio Oto Renal syndrome
Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and within affected families. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1...What you need to know about recent advances in genetics of hearing loss in the newborn
Identifying the underlying genetic cause of hearing loss in newborns can improve dramatically the early diagnosis and appropriate intervention. Hearing loss is the most common sensory disorder at birth, affecting approximately two out of 1000 newborns [1]. Congenital impaired hearing...Enhancing care for adults with auditory neuropathy spectrum disorder
It’s time to improve and personalise care for adults with ANSD. Knowing the lesion site could open up treatment opportunities like cochlear implants or new cell therapies. Auditory neuropathy spectrum disorder (ANSD) comprises a group of hearing disorders characterised by...Hearing rehabilitation after vestibular schwannoma surgery
Hearing rehabilitation is a key focus of the management of patients with vestibular schwannoma. But how do we rehabilitate hearing when the cochlear nerve has been damaged by tumour, irradiation, or resective surgery? Mathieu Trudel, Scott Rutherford and Simon Lloyd...Laryngeal papillomatosis
Laryngeal papillomatosis remains one of the most frustrating conditions seen by laryngologists. Sam Majumdar gives us an overview of the current science and clinical practice. Human papilloma virus is a small (> 8kb) double stranded DNA virus with approximately 200...SCOTLAND preoperative tympanomastoid CT temporal bone mnemonic system
Learning how to interpret a CT scan of the temporal bones can be a daunting task, especially for a head and neck surgeon like me! However, to make life easier, the authors have devised a useful system to help cover...
